Phenotype #0000355437

Individual ID	00470288
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., no prenatal growth anomalies; birth 37w2d; normal birth weight; 9m-sit; 19m-walk; 24m-first word; 32m-first sentence; 2m-failure to thrive; motor delay; speech delay; ADHD, tantrum, emotional regulation anxiety; no autism; intellectual disability, developmental delay; no seizures; hypotonia; sleep problems, wakes frequently and is an early riser; special education; feeding difficulties/failure to thrive; GERD; no hearing loss; pseudostrabismus; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; severe hypdontia, missing 16 permanent teeth uneven enamel, discoloration; no recurrent infections
Inheritance	Isolated (sporadic)
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	2m
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-30 10:24:36 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD